Article
Cataract-causing variant Q70P damages structural stability of βB1-crystallin and increases its tendency to form insoluble aggregates.
International journal of biological macromolecules - 1 Jul 2023
Zhang Ying, Ren Ling, Wu Wei, Liu Jian, Tian Qing, Yao Ke, Yu Yibo, Hu Lidan, Chen Xiangjun
Abstract excerpt
Congenital cataract is the primary cause of childhood blindness worldwide. As the predominant structural protein, βB1-crystallin plays an important role in maintaining lens transparency and cellular homeostasis. Numerous cataract-causing mutations of βB1-crystallin have been identified with unclear pathogenic mechanism. We previously identified the mutation Q70P (Q to P at residue position 70) of βB1-crystallin...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
